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Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency
Readingfinal.png Thinkfinal.png Lookfinal.jpg Findfinal.jpg 'Instructions for Filling in this Page' '' To edit this page you will need to find the edit button '''located at the top right corner of this page. It´s just like word processing like you normally do at your desktop word processor, the main difference being you´re doing it online.'Click the edit button and you will be in full control of what´s going on in this page. Never forget: Great power brings great responsibility. You can make mistakes, as long as you try to correct them.'' ''As you click the edit button you will find yourself in the visual mode. You may toggle between the "source" and "visual" mode, but we do recommend you '''keep it simply stupid, staying in the visual mode. Do not change the sections previously created, unless strictly necessary. Sections already created such as Summary, Symptom Description, etc. seem enough to produce brilliant scientific approaches. 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Always categorize and summarize your edits so we can find them. There can never be too much summarizing or categorizing on a wiki containing more than 7.000 rare diseases.'' Good Luck and may you find a cure for this rare disease, for its long been needed. The founder: An ordinary guy among extraordinary people 11:07, December 22, 2011 (UTC) 'Summary' Please add a brief description of this rare disease. 'Symptom Description' Please add detailed description of the symptoms originated by this rare disease. 'Photo Evidence' Please add photo evidence of the symptoms described above. 'Video Evidence' Please add video evidence of the symptoms described above. 'Diagnosis and Detection' Please add methods and procedures for diagnosis and detection of this rare disease. 'Scientific Findings Summary' Please add a brief summary of scientific findings on this rare disease: its origins, its causes, and its possible path for a cure. 'Puzzle Pieces I : Associated Chromosomes and Genes' Please add scientific knowledge about the chromosomes and genes associated to this disease. 'Puzzle Pieces II : Chromosome and Gene Regular Functionement' Please add scientific knowledge about the chromosomes and genes regular functionement associated to this disease. 'Puzzle Pieces III: Chromosome and Gene Disfunction' Please add scientific knowledge about the chromosomes and genes disfunction that gives origin to this disease. 'Puzzle Pieces IV: Evolution' Please add scientific knowledge on how this rare disease develops trough the years until it eventually leads to death. 'Sources: Bibliography and Documentation' Please add sources for further and more detailed information. If an information is available online provide the link. If available offline provide the Author, Year of Publication, Title and Publisher. 'Sites of Interest' Please add sites, portals, etc. online that may add something to finding a cure for this rare disease. '' 'Researchers' ''Please go to our profiler page, and add the contacts of scientists, researchers, labs, etc. investigating this subject. Fill in the appropriate information. Some fields are required; some are not. Publish the profile and copy the link of the published profile into this section. 'Drugs, Medicines and Remedies Commercially Available' Please add medicines, drugs, remedies and treatments related to this disease, that are commercially available. Link them to the original site/source. If not commercially available please use the section bellow. '' 'Drugs, Medicines and Remedies under Research and Development' ''Please add medicines and treatments related to this disease that are not commercially available; currently at the stage of research and development. Link any mention you make to the original site or source of information. If commercially available please use the section above. 'Multi-Disciplinary Treatments' Please provide treatments available, caring for multidisciplinary and integrated approaches. Be as specific as you can citing your sources. 'Similar Diseases or Similar Genetic Disfunction' Please suggest similar genetic disfunctions, either human or non-human, that we should look at in order to find a cure for this rare disease. 'Treatment Centers' Please add treatment centers available. Include contacts. Link any mentions you make to the online source if available. 'Financial Aid and Sponsorships' Please add fundships available, linking any mentions you make to the original source 'Family Support' Please add methods and procedures for family support. These may include videos, documents, and links to organizations or other portals. ''Anything Else ''Please add it here. 'Cure' Please add the methods and procedures necessary for an effective and definitive cure for this rare disease